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Bioinformatics and Genomics Technologies in the Analysis of Human Genome Diversity and Disease

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A 129 kb Deletion on Chromosome 12 Confers Substantial Protection Against Rheumatoid Arthritis, Implicating the Gene SLC2A3.C.D.Veal, K.E.Reekie, J.C.Lorentzen, L.Padyukov and A.J.Brookes. Human Mutation (2014) 35(2), 248-256 [doi: 10.1002/humu.22471]. GWAS Central: A Comprehensive Resource For The Comparison And Interrogation Of Genome-Wide Association Studies.T.Beck, R.K.Hastings, S.Gollapudi, R.C.Free and A.J.Brookes. Eur. J. Hum. Genet (2014) 22, 949-952 [doi: 10.1038/ejhg.2013.274]. A P3G Generic Access Agreement for Population Genomic Studies.B.M.Knoppers, R.Chisholm, J.Kaye and D.Cox (plus: P.Burton, A.J.Brookes, I.Fortier, P.Goodwin, J.Harris, K.Hveem, A.Kent, J.Little, P.Riegman, S.Ripatti, R.Stolk.). Nature Biotech. (2013) 31, 384-385 [doi:10.1038/nbt.2567]. Automated Design Of Paralogue Ratio Test Assays For The Accurate And Rapid Typing Of Copy Number Variation.C.D.Veal, H.Xu, K.Reekie, R.Free, R.J.Hardwick, D.McVey, A.J.Brookes, E.J.Hollox and C.J.Talbot. Bioinformatics (2013) 29, 1997-2003. HGV2012: Leveraging Next-Generation Technology and Large Datasets to Advance Disease Research.N.Gonzaludo, H.X.Zheng, J.Wang, S.J.Chanock, L.Jin, S.Scherer, C.Wijmenga, P.Y.Kwok and A.J.Brookes. Hum Mutat. (2013), 34, 657-660. Improving Data And Knowledge Management To Better Integrate Healthcare And Research.M.Cases, L.I.Furlong, J.Albanell, R.B.Altman, R.Bellazzi, S.Boyer, A.Brand, A.J.Brookes, S.Brunak, T.W.Clark, J.Gea, P.Ghazal, N.Graf, R.Guigó, T.E.Klein, N.López-Bigas, V.Maojo, B.Mons, M.Musen, J.L.Oliveira, A.Rowe, P.Ruch, A.Shabo, E.H.Shortliffe, A.Valencia, J.VanDerLei, M.A.Mayer and F.Sanz. Journal of Internal Medicine (2013) 274, 321-328. A Mechanistic Basis For Amplification Differences Between Samples And Between Genome Regions.C.D.Veal, P.J.Freeman, K.Jacobs, O.Lancaster, S.Jamain, M.Leboyer, D.Albanes, R.R.Vaghela, I.Gut, S.J.Chanock and A.J.Brookes. BMC Genomics (2012) 13, 455 [doi:10.1186/1471-2164-13-455]. Knowledge Engineering for Health: A new discipline required to bridge the 'ICT Gap' between research and healthcare.T.Beck, S.Gollapudi, S.Brunak, N.Graf, H.U.Lemke, D.Dash, I.Buchan, C.Díaz, F.Sanz and AJ.Brookes. Human Mutation (2012) 33, 797-802 (DOI: 10.1002/humu.22066). Observ-OM and Observ-TAB: Universal Syntax Solutions for the Integration, Search and Exchange of Phenotype And Genotype Information.T.Adamusiak, H.Parkinson, J.Muilu, E.Roos, J.VanDerVelde, G.A.Thorisson, M.Byrne, C.Pang, S.Gollapudi, V.Ferretti, H.Hillege, A.J.Brookes and M.A.Swertz. Human Mutation (2012) 33, 867-873 (DOI: 10.1002/humu.22070). Solving Bottlenecks In Data Sharing In The Life Sciences.R.Dalgleish, E.Molero, R.Kidd, M.Jansen, D.Past, A.Robl, B.Mons, C.Diaz, A.Mons and A.J.Brookes. Hum Mutat (2012) 33(10), 1494-1496 [doi: 10.1002/humu.22123]. VarioML Framework for Comprehensive Variation Data Representation and Exchange.M.G.Byrne, I.F.A.C.Fokkema, O.Lancaster, T.Adamusiak, A.Ahonen-Bishopp, D.Atlan, C.Beroud, M.Cornell, R.Dalgleish, A.Devereau, G.Patrinos, M.A.Swertz, P.E.M.Taschner, G.A.Thorisson, M.Vihinen, A.J.Brookes and Juha Muilu. BMC Bioinformatics (2012) 13, 254 [doi:10.1186/1471-2105-13-254]. Semantically enabling a genome-wide association study database.T.Beck, R.C.Free, G.A.Thorisson and A.J.Brookes. J. Biomed. Semantics (2012) 3, 9.Applying ontologies and exploring nanopublishing in a genome-wide association study database.T.Beck, G.A.Thorisson and A.J.Brookes. In SWAT4LS'11 Proceedings of the 4th International Workshop on Semantic Web Applications and Tools for the Life Sciences (2012) 1-2 (DOI: 10.1145/2166896.2166897). Towards a Roadmap in Global Biobanking for Health.J.R.Harris, P.Burton, B.M.Knoppers and K.Lindpaintner: plus, M.Bledsoe, A.J.Brookes, I.Budin-Lj?sne, R.Chisholm, D.Cox, M.Dechênes, I.Fortier, P.Hainaut, R.Hewitt, J.Kaye, J.Litton, A.Metspalu, B.Ollier, L.Palmer, A.Palotie, M.Pasterk, M.Perola, P.H.J.Riegman, G.vanOmmen, M.Yuille, K.Zatloukal. European J. Hum. Genet. (2012), 20, 1105-11 [doi: 10.1038/ejhg.2012.96]. HGV2011: Personalized Genomic Medicine Meets The Incidentalome.M.A.W.Sayres, A.J.Brookes, S.J.Chanock, V.G.Cheung, L.Jin and P-Y.Kwok. Human Mutation (2012) 33, 582-585 (DOI: 10.1002/humu.22008). Navigating The Perfect [Data] Storm.M.J.Murtagh, G.A.Thorrison, S.G.Wallace, J.Kaye, I.Demir, I.Fortier, J.R.Harris, D.Cox, M.Deschênes, P.Laflamme, V.Ferretti, N.Sheehan, T.J.Hudson, A.Cambon-Thomsen, R.P.Stolk, B.M.Knoppers, P.R.Burton* and A.J.Brookes* (*equal contribution) [on behalf of the P3G Consortium, GEN2PHEN and BioSHARE-EU]. Norwegian J. Epidemiology (2012) 21, 203-209. Clarity and Claims in Variation/Mutation Databasing. [A response to: "MutaDATABASE: a centralized and standardized DNA variation database" by Bale et al., 2011]. R.Dalgleish, W.S.Oetting, A.D.Auerbach, J.S.Beckmann, A.Cambon-Thomsen, A.Devereau, M.S.Greenblatt, G.P.Patrinos, G.R.Taylor, M.Vihinen and A.J.Brookes. Nature Biotechnology (2011) 29, 790-792 [DOI:10.1038/nbt.1961]. An Informatics Project and Online 'Knowledge Centre' Supporting Modern Genotype-to-Phenotype Research.A.J Webb, G.A.Thorisson and A.J.Brookes (on behalf of the GEN2PHEN consortium). Human Mutation (2011) 32, 543-550. [DOI: 10.1002/humu.21469]. Systems medicine and integrated care to combat chronic noncommunicable diseases.J.Bousquet, J.M.Anto, P.J.Sterk, I.M.Adcock, K.f.Chung, J.Roca, A.Agusti, C.Brightling, A.Cambon-Thomsen, A.Cesario, S.Abdelhak, S.E.Antonarakis, A.Avignon, A.Ballabio, E.Baraldi, A.Baranov, T.Bieber, J.Bockaert, S.Brahmachari, C.Brambilla, J.Bringer, M.Dauzat, I.Ernberg, L.Fabbri, P.Froguel, D.Galas, T.Gojobori, P.Hunter, C.Jorgensen, F.Kauffmann, P.Kourilsky, M.l.Kowalski, D.Lancet, C.LePen, J.Mallet, B.Mayosi, J.Mercier, A.Metspalu, J.H.Nadeau, G.Ninot, D.Noble, M.?ztürk, S.Palkonen, C.Préfaut, K.Rabe, E.Renard, R.g.Roberts, B.Samolinski, H.J.Schünemann, H-U.Simon, M.B.Soares, G.Superti-Furga, J.Tegner, S.Verjovski-Almeida, P.Wellstead, O.Wolkenhauer, E.Wouters, R.Balling, A.J.Brookes, D.Charron, C.Pison, Z.Chen, L.Hood, C.Auffray. Genome Medicine (2011) 3, 43. Targeted Enrichment Of Genomic DNA Regions For Next-Generation Sequencing.F.Mertes, A.Elsharawy, S.Sauer, J.M.vanHelvoort, P.J.VanDerZaag, A.Franke, M.Nilsson, H.Lehrach and A.J.Brookes.. Brief Funct Genomics (2011) 10(6), 374-386. The MOLGENIS Toolkit: Rapid Prototyping Of Biosoftware At The Push Of A Button.M.A.Swertz, M.Dijkstra, T.Adamusiak, K.J.van der Velde, A.Kanterakis, T.E.Roos, J.Lops, G.A.Thorisson, D.Arends, G.Byelas, J.Muilu, A.J.Brookes, E.O.de Brock, R.C.Jansen and H.Parkinson. BMC bioinformatics (2010) 11(Suppl.12), S12 . Finding and sharing; New Approaches to Registries of Resources and Services for the Biomedical Sciences.D.Smedley, P.Schofield, C-K.Chen, V.Aidinis, C.Ainali, J.Bard, R.Balling, E.Birney, A.Blake, E.Bongcam-Rudloff, A.J.Brookes, G.Cesareni, J.Eppig, P.Flicek, G.Gkoutos, S.Greenaway, M.Gruenberger, J-K.Hériché, A.Lyall, A-M.Mallon, D.Muddyman, F.Reisinger, M.Ringwald, N.Rosenthal, K.Schughart, M.Swertz, G.A.Thorisson, M.Zouberakis and J.M.Hancock. Database (2010) 2010, baq014 DOI:10.1093/database/baq014. Locus Reference Genomic (LRG) sequences: an improved basis for describing human DNA variants.R.Dalgleish, P.Flicek, F.Cunningham, A.Astashyn, R.E.Tully, G.Proctor, Y.Chen, W.M.McLaren, P.Larsson, B.W.Vaughan, C.Béroud, G.Dobson, H.Lehv?slaiho, P.E M.Taschner, J.T.denDunnen, A.Devereau, E.Birney, A.J.Brookes and D.R.Maglott. Genome Medicine (2010) 2, 24-30. Locus-specific database domain and data content analysis: Evolution and content maturation towards clinical use.C.Mitropoulou, AJ.Webb, K.Mitropoulos, AJ.Brookes and GP.Patrinos. Human Mutation (2010) 31, 1109-1116. HGV2009 Meeting: Bigger and better studies provide more answers and more questions.K.Reekie, A.Metspalu, S.J.Chanock, E.T.Liu, E.R.Mardis, S.W.Scherer, P-Y.Kwok and A.J.Brookes. Human Mutation (2010) 31, 886-888.

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